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Article

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Molecular vision - 1 Jan 2012

Pras Eran, Pras Elon, Reznik-Wolf Haike, Sharon Dror, Raivech Svetlana, Barkana Yaniv, Abu-Horowitz Almogit, Ygal Rotenstreich, Banin Eyal

Abstract excerpt

PURPOSE: To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel. METHODS: Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol dehydrogenase (RDH5)...

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Source

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Identifiers

PMID: 22815624
PMCID: PMC3399783

Genes

RDH5
FAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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